Publications by authors named "Roy Weiss"

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Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.
Mohammad S Islam, Alexandra M Dumitrescu, Amna Ahmed, Samuel Refetoff, Roy E Weiss

Endocrine· December 2025

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SARS-CoV-2 breakthrough infections in a retrospective cohort of vaccinated university students and employees.
Joana R N Lemos, Maritza Suarez, Shiby Thomas, Juan C Alvarez Canedo, Anantha Gangadhara, Roy E Weiss

Hum Vaccin Immunother· December 2025

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Functional Domain Mapping of TPO: Insights from Six Variants in Sudanese Kindreds with Congenital Hypothyroidism.
Mohammad S Islam, Ruy Andrade Louzada Neto, Jessica Bouviere, Amna E Ahmed, Ernesto Bernal-Mizrachi, Roy E Weiss

J Clin Endocrinol Metab· September 2025

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Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients.
Roy E Weiss, Joana R N Lemos, Alexandra M Dumitrescu, Mohammad S Islam, Khemraj Hirani

Thyroid· November 2024

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STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.
Helmut Grasberger, Alexandra M Dumitrescu, Xiao-Hui Liao, Elliott G Swanson, Roy E Weiss

Nat Genet· May 2024

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Eyes on the Prize: Decoding the Ophthalmic Product Regulations and Intricacies of the U.S. Food and Drug Administration Approval.
Khemraj Hirani, Mylarrao Bansinath, Rahul Mittal, Joana R N Lemos, Emily Adis, Roy E Weiss

J Ocul Pharmacol Ther· October 2023

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Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).
Reham Shareef, Aryel Furman, Yui Watanabe, Ryan Bruellman, Mohammed A Abdullah, Roy E Weiss

Thyroid· February 2023

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Combined Use of RT-qPCR and NGS for Identification and Surveillance of SARS-CoV-2 Variants of Concern in Residual Clinical Laboratory Samples in Miami-Dade County, Florida.
Yamina L Carattini, Anthony Griswold, Sion Williams, Ranjini Valiathan, Yi Zhou, Roy E Weiss

Viruses· February 2023

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Novel Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous Gene Mutations Causing Congenital Hypothyroidism.
Aryel Furman, Zeina Hannoush, Francisco Barrera Echegoyen, Alexandra Dumitrescu, Samuel Refetoff, Roy E Weiss

Thyroid· October 2021

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Automation of mass vaccination against COVID-19 at an academic health center.
Maritza Suarez, Avi Botwinick, Ravi Akkiraju, Gilbert Pebanco, Dido Franceschi, Roy E Weiss

JAMIA Open· October 2021

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Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.
Hideyuki Iwayama, Hiroki Kakita, Masumi Iwasa, Shinsuke Adachi, Kyoko Takano, Roy E Weiss

Thyroid· September 2021

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Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation.
Ary E Furman, Alexandra M Dumitrescu, Samuel Refetoff, Roy E Weiss

Thyroid· June 2021

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Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by Gene Mutation.
Samuel Refetoff, Theodora Pappa, Meredith K Williams, M Gisele Matheus, Xiao-Hui Liao, Roy E Weiss

Thyroid· May 2021

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Rivalry between human ideation and virus mutation: two competing means of sustainability.
Pascal J Goldschmidt-Clermont, Alexander J P Goldschmidt, Roy E Weiss

Women Health Care Issues· April 2021

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Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHβ.
Reham S Ebrhim, Ryan J Bruellman, Yui Watanabe, Matthew K Creech, Mohamed A Abdullah, Roy E Weiss

Horm Res Paediatr· July 2020

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Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.
Ryan J Bruellman, Yui Watanabe, Reham S Ebrhim, Matthew K Creech, Mohamed A Abdullah, Roy E Weiss

J Clin Endocrinol Metab· May 2020

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Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism.
Ryan Bruellman, Yui Watanabe, Reham Shareef, Mohamed A Abdullah, Alexandra Dumitrescu, Roy E Weiss

Thyroid· May 2020

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Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel Variants.
Jiao Fu, Manassawee Korwutthikulrangsri, Leigh Ramos-Platt, Tyler M Pierson, Xiao Hui Liao, Roy E Weiss

Thyroid· March 2020

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Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.
Jiao Fu, Manassawee Korwutthikulrangsri, E Nazli Gönç, Laura Sillers, Xiao-Hui Liao, Roy E Weiss

J Clin Endocrinol Metab· March 2020

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Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
Yui Watanabe, Ryan J Bruellman, Reham S Ebrhim, Mohamed A Abdullah, Alexandra M Dumitrescu, Roy E Weiss

Thyroid· February 2019

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A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism.
Yui Watanabe, Reham S Ebrhim, Mohamed A Abdullah, Roy E Weiss

Thyroid· August 2018

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Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
Theodora Pappa, João Anselmo, Sunnee Mamanasiri, Alexandra M Dumitrescu, Roy E Weiss

J Clin Endocrinol Metab· October 2017

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